dbEM
A Database of Epigenetic Modifiers
Cite: Nanda JS, Kumar R, Raghava GP. (2016) dbEM: A database of epigenetic modifiers curated from cancerous and normal genomes. Sci Rep. 6:19340.
Protein: KDM5A |
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Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 22RV1 PROSTATE c.1778C>T p.P593L CCLE PASSENGER/OTHER Benign 2 5637 URINARY TRACT c.417G>A p.W139* CCLE NP NP 3 ABC1 LUNG c.367_splice p.I123_splice CCLE NP NP 4 AN3CA ENDOMETRIUM c.1958T>C p.V653A CCLE PASSENGER/OTHER Benign 5 BICR18 UPPER AERODIGESTIVE TRACT c.4932_4933TC>CG p.P1645A CCLE PASSENGER/OTHER Benign 6 CMLT1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4300G>A p.V1434M CCLE PASSENGER/OTHER Probably Damaging 7 COLO792 SKIN c.5000C>T p.P1667L CCLE PASSENGER/OTHER Benign 8 CORL51 LUNG c.1776G>C p.L592F CCLE PASSENGER/OTHER Probably Damaging 9 DV90 LUNG c.3597_3597delA p.K1199fs CCLE NP NP 10 EN ENDOMETRIUM c.1124C>G p.S375C CCLE PASSENGER/OTHER Benign 11 EN ENDOMETRIUM c.4760_4761insA p.K1587fs CCLE NP NP 12 FADU UPPER AERODIGESTIVE TRACT c.3311A>G p.D1104G CCLE PASSENGER/OTHER Benign 13 GCIY STOMACH c.3590A>C p.Q1197P CCLE PASSENGER/OTHER Benign 14 HARA LUNG c.2758G>A p.D920N CCLE PASSENGER/OTHER Possibly Damaging 15 HCC1359 LUNG c.2826G>A p.M942I CCLE PASSENGER/OTHER Benign 16 HCC366 LUNG c.3005G>A p.R1002Q CCLE PASSENGER/OTHER Possibly Damaging 17 HCT116 LARGE INTESTINE c.3597_3597delA p.K1199fs CCLE NP NP 18 HDLM2 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2216A>G p.Y739C CCLE PASSENGER/OTHER Probably Damaging 19 HEC151 ENDOMETRIUM c.1214T>C p.V405A CCLE PASSENGER/OTHER Possibly Damaging 20 HEC251 ENDOMETRIUM c.4208C>A p.S1403Y CCLE PASSENGER/OTHER Probably Damaging 21 HEC265 ENDOMETRIUM c.3597_3597delA p.K1199fs CCLE NP NP 22 HEC6 ENDOMETRIUM c.3597_3597delA p.K1199fs CCLE NP NP 23 HEC6 ENDOMETRIUM c.4544A>G p.Q1515R CCLE PASSENGER/OTHER Benign 24 HEC6 ENDOMETRIUM c.544C>T p.Q182* CCLE NP NP 25 HS616T HAEMATOPOIETIC AND LYMPHOID TISSUE c.3197C>G p.S1066C CCLE PASSENGER/OTHER Probably Damaging 26 HS695T SKIN c.3989C>T p.S1330F CCLE PASSENGER/OTHER Possibly Damaging 27 HS698T LARGE INTESTINE c.3083C>T p.A1028V CCLE PASSENGER/OTHER Benign 28 HSC2 UPPER AERODIGESTIVE TRACT c.4415C>A p.T1472K CCLE PASSENGER/OTHER Probably Damaging 29 HT115 LARGE INTESTINE c.1024G>A p.A342T CCLE PASSENGER/OTHER Possibly Damaging 30 HT115 LARGE INTESTINE c.2542_splice p.N848_splice CCLE NP NP 31 HT115 LARGE INTESTINE c.4048C>T p.R1350* CCLE NP NP 32 HT115 LARGE INTESTINE c.491G>T p.R164I CCLE PASSENGER/OTHER Probably Damaging 33 HT HAEMATOPOIETIC AND LYMPHOID TISSUE c.466T>C p.S156P CCLE PASSENGER/OTHER Probably Damaging 34 JHUEM2 ENDOMETRIUM c.4796G>T p.G1599V CCLE PASSENGER/OTHER Probably Damaging 35 JHUEM7 ENDOMETRIUM c.512T>G p.L171R CCLE PASSENGER/OTHER Benign 36 KM12 LARGE INTESTINE c.3197C>G p.S1066C CCLE PASSENGER/OTHER Probably Damaging 37 KM12 LARGE INTESTINE c.3597_3597delA p.K1199fs CCLE NP NP 38 KMS12BM HAEMATOPOIETIC AND LYMPHOID TISSUE c.2531G>A p.R844Q CCLE PASSENGER/OTHER Possibly Damaging 39 KYSE520 OESOPHAGUS c.3844C>T p.R1282C CCLE PASSENGER/OTHER Probably Damaging 40 LNCAPCLONEFGC PROSTATE c.1906T>C p.C636R CCLE PASSENGER/OTHER Benign 41 LNCAPCLONEFGC PROSTATE c.3597_3597delA p.K1199fs CCLE NP NP 42 LS180 LARGE INTESTINE c.227G>A p.R76H CCLE PASSENGER/OTHER Probably Damaging 43 LS411N LARGE INTESTINE c.3597_3597delA p.K1199fs CCLE NP NP 44 MDAMB435S SKIN c.4933C>T p.P1645S CCLE PASSENGER/OTHER Benign 45 MFE319 ENDOMETRIUM c.3597_3597delA p.K1199fs CCLE NP NP 46 MOLP2 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3590A>C p.Q1197P CCLE PASSENGER/OTHER Benign 47 MOLP2 HAEMATOPOIETIC AND LYMPHOID TISSUE c.88A>G p.T30A CCLE PASSENGER/OTHER Benign 48 NALM6 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3151C>T p.R1051W CCLE PASSENGER/OTHER Probably Damaging 49 NB1 AUTONOMIC GANGLIA c.1817G>T p.R606M CCLE PASSENGER/OTHER Possibly Damaging 50 NCIH1568 LUNG c.-123C>T CCLE NP NP 51 NCIH1623 LUNG c.3076T>A p.L1026M CCLE PASSENGER/OTHER Probably Damaging 52 NCIH1781 LUNG c.703G>C p.E235Q CCLE PASSENGER/OTHER Probably Damaging 53 NCIH2342 LUNG c.871G>T p.V291F CCLE PASSENGER/OTHER Probably Damaging 54 NCIH358 LUNG c.3786G>T p.Q1262H CCLE PASSENGER/OTHER Probably Damaging 55 NCIH650 LUNG c.1917G>T p.L639F CCLE PASSENGER/OTHER Benign 56 NCIH727 LUNG c.224A>G p.Q75R CCLE PASSENGER/OTHER Probably Damaging 57 NCIH929 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1288A>G p.K430E CCLE PASSENGER/OTHER Benign 58 OC316 OVARY c.3413T>C p.I1138T CCLE PASSENGER/OTHER Benign 59 OVK18 OVARY c.3597_3597delA p.K1199fs CCLE NP NP 60 PK45H PANCREAS c.1999G>C p.E667Q CCLE PASSENGER/OTHER Possibly Damaging 61 REH HAEMATOPOIETIC AND LYMPHOID TISSUE c.3597_3597delA p.K1199fs CCLE NP NP 62 RERFLCAD1 LUNG c.1588C>T p.P530S CCLE PASSENGER/OTHER Probably Damaging 63 SNU1040 LARGE INTESTINE c.2155C>T p.R719C CCLE PASSENGER/OTHER Probably Damaging 64 SNU1040 LARGE INTESTINE c.3205A>G p.T1069A CCLE PASSENGER/OTHER Benign 65 SNU1040 LARGE INTESTINE c.3398G>A p.R1133Q CCLE PASSENGER/OTHER Possibly Damaging 66 SNU1040 LARGE INTESTINE c.4400G>A p.R1467Q CCLE PASSENGER/OTHER Probably Damaging 67 SNU1077 ENDOMETRIUM c.2296A>T p.M766L CCLE PASSENGER/OTHER Benign 68 SNU1197 LARGE INTESTINE c.4282C>T p.R1428* CCLE NP NP 69 SNU175 LARGE INTESTINE c.1406C>T p.P469L CCLE PASSENGER/OTHER Probably Damaging 70 SNU175 LARGE INTESTINE c.3597_3597delA p.K1199fs CCLE NP NP 71 SNU175 LARGE INTESTINE c.659G>A p.R220H CCLE PASSENGER/OTHER Probably Damaging 72 SNU349 KIDNEY c.1282C>T p.R428W CCLE PASSENGER/OTHER Probably Damaging 73 SNU423 LIVER c.2296A>T p.M766L CCLE PASSENGER/OTHER Benign 74 SNU503 LARGE INTESTINE c.88A>G p.T30A CCLE PASSENGER/OTHER Benign 75 SNU520 STOMACH c.1943G>A p.R648Q CCLE PASSENGER/OTHER Benign 76 SNU620 STOMACH c.2639T>C p.M880T CCLE PASSENGER/OTHER Benign 77 SNU81 LARGE INTESTINE c.2345G>A p.R782Q CCLE PASSENGER/OTHER Benign 78 SNU81 LARGE INTESTINE c.4250G>T p.R1417M CCLE PASSENGER/OTHER Probably Damaging 79 SNU81 LARGE INTESTINE c.4468G>T p.E1490* CCLE NP NP 80 SNUC4 LARGE INTESTINE c.3597_3598insA p.K1199fs CCLE NP NP 81 SNUC5 LARGE INTESTINE c.3597_3598insA p.K1199fs CCLE NP NP 82 T98G CENTRAL NERVOUS SYSTEM c.3503A>G p.K1168R CCLE PASSENGER/OTHER Benign 83 TE6 OESOPHAGUS c.1835C>T p.S612L CCLE PASSENGER/OTHER Probably Damaging 84 TE6 OESOPHAGUS c.2059G>A p.A687T CCLE PASSENGER/OTHER Probably Damaging 85 TOV21G OVARY c.2274_2274delA p.K758fs CCLE NP NP 86 VMRCLCD LUNG c.4031A>T p.D1344V CCLE PASSENGER/OTHER Probably Damaging 87 587228 LARGE INTESTINE c.2086C>T p.R696W COSMIC PASSENGER/OTHER Probably Damaging 88 587228 LARGE INTESTINE c.3597delA p.G1200fs*9 COSMIC NP NP 89 587238 LARGE INTESTINE c.1406C>A p.P469Q COSMIC PASSENGER/OTHER Probably Damaging 90 587238 LARGE INTESTINE c.4537C>T p.R1513W COSMIC NP NP 91 587286 LARGE INTESTINE c.1115A>C p.N372T COSMIC PASSENGER/OTHER Benign 92 587342 LARGE INTESTINE c.541G>A p.V181M COSMIC PASSENGER/OTHER Benign 93 587376 LARGE INTESTINE c.4773A>C p.K1591N COSMIC NP NP 94 761 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2758G>T p.D920Y COSMIC PASSENGER/OTHER Probably Damaging 95 761-01-1TD HAEMATOPOIETIC AND LYMPHOID TISSUE c.2758G>T p.D920Y COSMIC PASSENGER/OTHER Probably Damaging 96 ESO-081 OESOPHAGUS c.820G>A p.A274T COSMIC PASSENGER/OTHER Probably Damaging 97 ESO-139 OESOPHAGUS c.1268C>T p.P423L COSMIC PASSENGER/OTHER Probably Damaging 98 GC8_T STOMACH c.3747G>A p.L1249L COSMIC NP NP 99 H358 LUNG c.3786G>T p.Q1262H COSMIC PASSENGER/OTHER Probably Damaging 100 H650 LUNG c.1917G>T p.L639F COSMIC PASSENGER/OTHER Benign 101 HCC2998 LARGE INTESTINE c.4499A>C p.K1500T COSMIC NP NP 102 HOP-92 LUNG c.3365A>G p.D1122G COSMIC PASSENGER/OTHER Probably Damaging 103 ID51 HAEMATOPOIETIC AND LYMPHOID TISSUE c.965G>A p.C322Y COSMIC CANCER Probably Damaging 104 LUAD-E00934 LUNG c.3660G>T p.R1220S COSMIC PASSENGER/OTHER Probably Damaging 105 LUAD-RT-S01703 LUNG c.1864G>T p.A622S COSMIC PASSENGER/OTHER Benign 106 LUAD-YINHD LUNG c.2908A>T p.S970C COSMIC PASSENGER/OTHER Probably Damaging 107 LUAD_E00522 LUNG c.659G>T p.R220L COSMIC PASSENGER/OTHER Possibly Damaging 108 LUAD_E00565 LUNG c.4150G>A p.E1384K COSMIC PASSENGER/OTHER Probably Damaging 109 MD-289 CENTRAL NERVOUS SYSTEM c.2718A>C p.E906D COSMIC PASSENGER/OTHER Benign 110 ME009T SKIN c.4148C>T p.S1383F COSMIC PASSENGER/OTHER Probably Damaging 111 ME011T SKIN c.4366G>A p.V1456I COSMIC NP NP 112 ME024T NS c.4261C>T p.P1421S COSMIC NP NP 113 ME050T SKIN c.3568C>T p.P1190S COSMIC CANCER Benign 114 ME050T SKIN c.3781C>T p.R1261W COSMIC PASSENGER/OTHER Probably Damaging 115 MZ7-mel SKIN c.3230_3231insC p.T1078fs*12 COSMIC NP NP 116 NB-1659 AUTONOMIC GANGLIA c.3083C>T p.A1028V COSMIC PASSENGER/OTHER Benign 117 NB-1977 AUTONOMIC GANGLIA c.3219G>T p.V1073V COSMIC NP NP 118 NB02C AUTONOMIC GANGLIA c.1810C>T p.R604C COSMIC PASSENGER/OTHER Probably Damaging 119 P09-120 PROSTATE c.1703G>A p.R568H COSMIC PASSENGER/OTHER Probably Damaging 120 PD3189a SALIVARY GLAND c.2928C>A p.S976R COSMIC PASSENGER/OTHER Benign 121 PD4113a BREAST c.95delC p.P32fs*34 COSMIC NP NP 122 PD4120a BREAST c.1303G>A p.E435K COSMIC PASSENGER/OTHER Benign 123 PD4203a NS c.551C>T p.P184L COSMIC PASSENGER/OTHER Benign 124 PR-2915 PROSTATE c.744T>A p.V248V COSMIC NP NP 125 RK002_C01 LIVER c.4395C>A p.D1465E COSMIC NP NP 126 S00472 LUNG c.3693A>G p.V1231V COSMIC NP NP 127 SW620 LARGE INTESTINE c.920A>C p.K307T COSMIC PASSENGER/OTHER Possibly Damaging 128 T90 PROSTATE c.2033_2044del12 p.R680_C683delRTTC COSMIC NP NP 129 TARGET-30-PARDYU AUTONOMIC GANGLIA c.5121C>A p.F1707L COSMIC NP NP 130 TARGET-30-PARKAG AUTONOMIC GANGLIA c.1810C>T p.R604C COSMIC PASSENGER/OTHER Probably Damaging 131 TCGA-05-4420-01 LUNG c.31G>C p.A11P COSMIC PASSENGER/OTHER Possibly Damaging 132 TCGA-05-5428-01 LUNG c.313C>G p.L105V COSMIC PASSENGER/OTHER Benign 133 TCGA-09-2049-01 OVARY c.3685C>T p.L1229F COSMIC PASSENGER/OTHER Probably Damaging 134 TCGA-18-3409-01 LUNG c.402C>A p.T134T COSMIC NP NP 135 TCGA-21-1081-01 LUNG c.1658A>G p.Y553C COSMIC PASSENGER/OTHER Benign 136 TCGA-29-1694-01 OVARY c.1963C>G p.Q655E COSMIC PASSENGER/OTHER Benign 137 TCGA-30-1718-01 OVARY c.4357C>T p.L1453F COSMIC NP NP 138 TCGA-33-4532-01 LUNG c.1076G>T p.R359L COSMIC PASSENGER/OTHER Possibly Damaging 139 TCGA-34-5236-01 LUNG c.4848A>C p.A1616A COSMIC NP NP 140 TCGA-39-5024-01 LUNG c.190G>C p.E64Q COSMIC PASSENGER/OTHER Benign 141 TCGA-43-5668-01 LUNG c.790C>T p.R264* COSMIC NP NP 142 TCGA-44-2662-01 LUNG c.3649C>T p.R1217W COSMIC PASSENGER/OTHER Probably Damaging 143 TCGA-46-3769-01 LUNG c.2775G>C p.L925L COSMIC NP NP 144 TCGA-49-4510-01 LUNG c.1528G>T p.A510S COSMIC PASSENGER/OTHER Benign 145 TCGA-51-4081-01 LUNG c.3721C>T p.P1241S COSMIC PASSENGER/OTHER Probably Damaging 146 TCGA-55-5899-01 LUNG c.2628G>A p.M876I COSMIC PASSENGER/OTHER Benign 147 TCGA-66-2757-01 LUNG c.4208C>T p.S1403F COSMIC PASSENGER/OTHER Probably Damaging 148 TCGA-66-2778-01 LUNG c.469C>G p.L157V COSMIC PASSENGER/OTHER Benign 149 TCGA-66-2778-01 LUNG c.498C>G p.L166L COSMIC NP NP 150 TCGA-78-7155-01 LUNG c.3270G>A p.R1090R COSMIC NP NP 151 TCGA-78-7539-01 LUNG c.2763C>T p.V921V COSMIC NP NP 152 TCGA-91-6835-01 LUNG c.973C>T p.P325S COSMIC CANCER Probably Damaging 153 TCGA-A5-A0GI-01 ENDOMETRIUM c.4538G>A p.R1513Q COSMIC NP NP 154 TCGA-A6-3809-01 LARGE INTESTINE c.3278T>C p.V1093A COSMIC PASSENGER/OTHER Benign 155 TCGA-A6-6653-01 LARGE INTESTINE c.3601T>C p.S1201P COSMIC PASSENGER/OTHER Benign 156 TCGA-A6-6780-01 LARGE INTESTINE c.3982G>A p.V1328M COSMIC PASSENGER/OTHER Benign 157 TCGA-AA-3510-01 LARGE INTESTINE c.570A>C p.E190D COSMIC PASSENGER/OTHER Benign 158 TCGA-AA-3715-01 LARGE INTESTINE c.3766T>C p.W1256R COSMIC PASSENGER/OTHER Probably Damaging 159 TCGA-AA-3966-01 LARGE INTESTINE c.5042A>T p.E1681V COSMIC NP NP 160 TCGA-AA-3977-01 LARGE INTESTINE c.1696T>A p.F566I COSMIC PASSENGER/OTHER Probably Damaging 161 TCGA-AA-3977-01 LARGE INTESTINE c.3619G>T p.E1207* COSMIC NP NP 162 TCGA-AA-3984-01 LARGE INTESTINE c.333G>A p.E111E COSMIC NP NP 163 TCGA-AA-3984-01 LARGE INTESTINE c.4527G>A p.K1509K COSMIC NP NP 164 TCGA-AA-A00N-01 LARGE INTESTINE c.4150G>A p.E1384K COSMIC PASSENGER/OTHER Probably Damaging 165 TCGA-AA-A010-01 LARGE INTESTINE c.4619A>T p.K1540M COSMIC NP NP 166 TCGA-AA-A029-01 LARGE INTESTINE c.3710C>T p.P1237L COSMIC PASSENGER/OTHER Probably Damaging 167 TCGA-AD-6964-01 LARGE INTESTINE c.3597delA p.G1200fs*9 COSMIC NP NP 168 TCGA-AG-A002-01 LARGE INTESTINE c.1456G>A p.D486N COSMIC PASSENGER/OTHER Probably Damaging 169 TCGA-AG-A002-01 LARGE INTESTINE c.2473G>T p.E825* COSMIC NP NP 170 TCGA-AG-A002-01 LARGE INTESTINE c.3715C>T p.R1239W COSMIC PASSENGER/OTHER Probably Damaging 171 TCGA-AG-A002-01 LARGE INTESTINE c.713A>C p.K238T COSMIC PASSENGER/OTHER Benign 172 TCGA-AG-A036-01 LARGE INTESTINE c.3235G>A p.D1079N COSMIC PASSENGER/OTHER Possibly Damaging 173 TCGA-AN-A0AR-01 BREAST c.349C>A p.L117M COSMIC PASSENGER/OTHER Probably Damaging 174 TCGA-AN-A0FL-01 BREAST c.2815G>C p.E939Q COSMIC PASSENGER/OTHER Benign 175 TCGA-AP-A051-01 ENDOMETRIUM c.1052C>T p.A351V COSMIC PASSENGER/OTHER Benign 176 TCGA-AP-A051-01 ENDOMETRIUM c.2379C>A p.T793T COSMIC NP NP 177 TCGA-AP-A051-01 ENDOMETRIUM c.3091C>T p.R1031C COSMIC PASSENGER/OTHER Possibly Damaging 178 TCGA-AP-A051-01 ENDOMETRIUM c.4283G>A p.S1428N COSMIC NP NP 179 TCGA-AP-A051-01 ENDOMETRIUM c.796C>T p.R266* COSMIC NP NP 180 TCGA-AP-A054-01 ENDOMETRIUM c.1475T>G p.I492S COSMIC PASSENGER/OTHER Probably Damaging 181 TCGA-AP-A056-01 ENDOMETRIUM c.2049T>C p.C683C COSMIC NP NP 182 TCGA-AP-A059-01 ENDOMETRIUM c.1883A>G p.D628G COSMIC PASSENGER/OTHER Possibly Damaging 183 TCGA-AP-A059-01 ENDOMETRIUM c.2662C>T p.L888F COSMIC PASSENGER/OTHER Probably Damaging 184 TCGA-AP-A0LM-01 ENDOMETRIUM c.3016G>A p.A1006T COSMIC PASSENGER/OTHER Benign 185 TCGA-AP-A0LM-01 ENDOMETRIUM c.3235G>A p.D1079N COSMIC PASSENGER/OTHER Possibly Damaging 186 TCGA-AP-A0LM-01 ENDOMETRIUM c.851G>A p.G284D COSMIC PASSENGER/OTHER Benign 187 TCGA-AR-A0U2-01 BREAST c.735G>A p.G245G COSMIC NP NP 188 TCGA-AX-A05S-01 ENDOMETRIUM c.2086C>T p.R696W COSMIC PASSENGER/OTHER Probably Damaging 189 TCGA-AX-A05Z-01 ENDOMETRIUM c.2678G>A p.R893Q COSMIC PASSENGER/OTHER Benign 190 TCGA-AX-A05Z-01 ENDOMETRIUM c.4221G>T p.K1407N COSMIC PASSENGER/OTHER Probably Damaging 191 TCGA-AX-A0J0-01 ENDOMETRIUM c.1790A>C p.Q597P COSMIC PASSENGER/OTHER Benign 192 TCGA-AX-A0J0-01 ENDOMETRIUM c.1912G>T p.E638* COSMIC NP NP 193 TCGA-AX-A0J1-01 ENDOMETRIUM c.4478G>T p.S1493I COSMIC NP NP 194 TCGA-AZ-4315-01 LARGE INTESTINE c.1808G>A p.R603Q COSMIC PASSENGER/OTHER Possibly Damaging 195 TCGA-B0-5094-01 KIDNEY c.1609G>A p.V537I COSMIC PASSENGER/OTHER Benign 196 TCGA-B5-A0JY-01 ENDOMETRIUM c.2345G>A p.R782Q COSMIC PASSENGER/OTHER Benign 197 TCGA-B5-A0JY-01 ENDOMETRIUM c.2946G>T p.K982N COSMIC PASSENGER/OTHER Benign 198 TCGA-B5-A0JY-01 ENDOMETRIUM c.339A>C p.K113N COSMIC PASSENGER/OTHER Possibly Damaging 199 TCGA-B5-A11E-01 ENDOMETRIUM c.2454G>T p.R818R COSMIC NP NP 200 TCGA-B5-A11N-01 ENDOMETRIUM c.2678G>A p.R893Q COSMIC PASSENGER/OTHER Benign 201 TCGA-BP-4981-01 KIDNEY c.1578T>C p.F526F COSMIC NP NP 202 TCGA-BS-A0U8-01 ENDOMETRIUM c.3041G>A p.G1014D COSMIC PASSENGER/OTHER Benign 203 TCGA-BT-A20N-01 URINARY TRACT c.3697C>T p.L1233F COSMIC PASSENGER/OTHER Probably Damaging 204 TCGA-CA-6717-01 LARGE INTESTINE c.1943G>A p.R648Q COSMIC PASSENGER/OTHER Benign 205 TCGA-CJ-5683-01 KIDNEY c.878T>C p.L293P COSMIC PASSENGER/OTHER Probably Damaging 206 TCGA-CK-5913-01 LARGE INTESTINE c.3597delA p.G1200fs*9 COSMIC NP NP 207 TCGA-CK-5913-01 LARGE INTESTINE c.692G>A p.S231N COSMIC PASSENGER/OTHER Benign 208 TCGA-D1-A0ZO-01 ENDOMETRIUM c.2161C>A p.P721T COSMIC PASSENGER/OTHER Benign 209 TCGA-D1-A103-01 ENDOMETRIUM c.2821G>A p.A941T COSMIC PASSENGER/OTHER Benign 210 TCGA-D1-A103-01 ENDOMETRIUM c.645G>A p.P215P COSMIC NP NP 211 TCGA-D1-A15X-01 ENDOMETRIUM c.984T>C p.P328P COSMIC NP NP 212 TCGA-D1-A163-01 ENDOMETRIUM c.2022G>A p.R674R COSMIC NP NP 213 TCGA-D1-A167-01 ENDOMETRIUM c.1268C>T p.P423L COSMIC PASSENGER/OTHER Probably Damaging 214 TCGA-D1-A16J-01 ENDOMETRIUM c.498C>G p.L166L COSMIC NP NP 215 TCGA-D1-A17B-01 ENDOMETRIUM c.1991_1993delAAG p.E664delE COSMIC NP NP 216 TCGA-D5-6532-01 LARGE INTESTINE c.3686T>C p.L1229P COSMIC PASSENGER/OTHER Probably Damaging 217 TCGA-D5-6541-01 LARGE INTESTINE c.5040T>A p.A1680A COSMIC NP NP 218 TCGA-D5-6928-01 LARGE INTESTINE c.3597delA p.G1200fs*9 COSMIC NP NP 219 TCGA-D5-6928-01 LARGE INTESTINE c.4170G>A p.M1390I COSMIC PASSENGER/OTHER Possibly Damaging 220 TCGA-DC-5337-01 LARGE INTESTINE c.4994A>G p.D1665G COSMIC NP NP 221 TCGA-DC-5869-01 LARGE INTESTINE c.1902G>A p.M634I COSMIC PASSENGER/OTHER Benign 222 TCGA-DR-A0ZM-01 CERVIX c.797G>A p.R266Q COSMIC PASSENGER/OTHER Benign 223 TCGA-DR-A0ZM-01 CERVIX c.955C>G p.H319D COSMIC CANCER Probably Damaging 224 TCGA-DY-A1DC-01 LARGE INTESTINE c.4211C>A p.S1404Y COSMIC PASSENGER/OTHER Probably Damaging 225 TCGA-FD-A3B5-01 URINARY TRACT c.2716G>T p.E906* COSMIC NP NP 226 TCGA-FD-A3B8-01 URINARY TRACT c.3493A>G p.I1165V COSMIC PASSENGER/OTHER Benign 227 TCGA-G4-6304-01 LARGE INTESTINE c.3597delA p.G1200fs*9 COSMIC NP NP 228 TCGA-G4-6586-01 LARGE INTESTINE c.3597delA p.G1200fs*9 COSMIC NP NP 229 TCGA-G4-6588-01 LARGE INTESTINE c.3597delA p.G1200fs*9 COSMIC NP NP 230 TCGA-G9-6371-01 PROSTATE c.3515G>T p.G1172V COSMIC CANCER Probably Damaging 231 U251 CENTRAL NERVOUS SYSTEM c.3365A>G p.D1122G COSMIC PASSENGER/OTHER Probably Damaging 232 WA13 PROSTATE c.3470G>A p.R1157H COSMIC CANCER Benign 233 pfg008T STOMACH c.2034A>G p.A678A COSMIC NP NP 234 pfg016T STOMACH c.3597delA p.G1200fs*9 COSMIC NP NP
*NP: Not Predicted -
Copy number variation and expression profile (+)
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Gene Essentiality Data (+)
Note: Lower the GARP score (more negative), higher the essentiality of the gene. P-value tells about the significane of GARP score.Gene essentiality data is not present in COLT database!! -
Tertiary structure (+)
Users must enabled the Java in their browser to see structure.
Users can also download Java from here.Modelled Structure Structures available in PDB -
Structure Domains (+)
1. PFAM domains are not present!!2. Superfaimly domains are not present!! -
Sequence Alignment (+)
Users must enabled the Java in their browser to see sequence alignments.
Users can also download Java from here.1. Sequence alignment with 1000 genome variations:2. Sequence alignment with CCLE mutants:3. Sequence alignment with COSMIC mutants:4. Sequence alignment with homologus proteins: -
Sequence Profiles (+)
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Post Translational Modifications (+)
Post translational modifications are not found!!Other Databases Link (+)
